UniProt | Protein Name |
---|---|
P07686 |
|
A0A024RAJ6 |
|
Q5URX0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glycosaminoglycan metabolic process | ||
chondroitin sulfate catabolic process | ||
neuron cellular homeostasis | ||
ganglioside catabolic process | ||
lysosome organization |
GO Term | Evidence Code | PMID |
---|---|---|
extracellular exosome | ||
acrosomal vesicle | ||
lysosome | ||
beta-N-acetylhexosaminidase complex | ||
azurophil granule lumen |
GO Term | Evidence Code | PMID |
---|---|---|
beta-N-acetylhexosaminidase activity | ||
N-acetyl-beta-D-galactosaminidase activity | ||
acetylglucosaminyltransferase activity | ||
protein binding | ||
identical protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0060193 | amyotrophic lateral sclerosis type 1 | |
DOID:0060194 | amyotrophic lateral sclerosis type 2 | |
DOID:0060196 | amyotrophic lateral sclerosis type 4 | |
DOID:0060490 | Schimke immuno-osseous dysplasia | |
DOID:0111064 | autosomal recessive distal hereditary motor neuronopathy 1 | |
DOID:0111154 | postural orthostatic tachycardia syndrome | |
DOID:11120 | psychologic dyspareunia | |
DOID:11155 | hypohidrosis | |
DOID:11156 | anhidrosis | |
DOID:11771 | spontaneous ocular nystagmus |
HPO ID | HPO Term |
---|---|
HP:0004373 | Focal dystonia |
HP:0004481 | Progressive macrocephaly |
HP:0007083 | Hyperactive patellar reflex |
HP:0007256 | Abnormal pyramidal sign |
HP:0007272 | Progressive psychomotor deterioration |
HP:0008994 | Proximal muscle weakness in lower limbs |
HP:0009062 | Infantile axial hypotonia |
HP:0010729 | Cherry red spot of the macula |
HP:0010780 | Hyperacusis |
HP:0010829 | Impaired temperature sensation |
Disease ID | Disease Name |
---|---|
ORPHA:309155 |
|
OMIM:268800 |
|
ORPHA:309162 |
|
ORPHA:309169 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
180533 | WB:WBGene00020509 | ||
31808 | FB:FBgn0041629 | ||
38528 | FB:FBgn0041630 | ||
250735 | FB:FBgn0045063 | ||
100178428 | CIOIN07063 | ||
100187142 | CIOIN07062 | ||
103186366 | CALMI34542 | ||
102348190 | LATCH03984 | ||
323613 | ZFIN:ZDB-GENE-030131-2333 | DANRE36168 | |
103025028 | ASTMX12396 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024